Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion
Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, muscu...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2004-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2800 |
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| _version_ | 1850023801397444608 |
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| author | Mustafa Akçakuş Tamer Güneş Selim Kurtoğlu Neşide Cetin Yusuf Ozkul Nazmi Narin Mehmet Emre Atabek Remzi Uğraş |
| author_facet | Mustafa Akçakuş Tamer Güneş Selim Kurtoğlu Neşide Cetin Yusuf Ozkul Nazmi Narin Mehmet Emre Atabek Remzi Uğraş |
| author_sort | Mustafa Akçakuş |
| collection | DOAJ |
| description |
Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia and a variable deletion on chromosome 22q11. The deletion within chromosme region of 22q11 may occur in patients with dysmorphologic and cardiological syndromes: DiGeorge syndrome, velo-cardiofacial syndrome and conotruncal anomaly face syndrome. We report a newborn infant who had asymmetric crying facies associated with congenital hypoparathyroidism, severe neonatal hypocalcemia and tetralogy of Fallot. Genetic confirmation of chromosome 22q11 deletion was made.
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| format | Article |
| id | doaj-art-9e1f9b393567417cbc40ef8c1a02aa7a |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2004-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-9e1f9b393567417cbc40ef8c1a02aa7a2025-08-20T03:01:17ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212004-04-01462Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletionMustafa Akçakuş0Tamer GüneşSelim KurtoğluNeşide CetinYusuf OzkulNazmi NarinMehmet Emre AtabekRemzi UğraşDepartment of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia and a variable deletion on chromosome 22q11. The deletion within chromosme region of 22q11 may occur in patients with dysmorphologic and cardiological syndromes: DiGeorge syndrome, velo-cardiofacial syndrome and conotruncal anomaly face syndrome. We report a newborn infant who had asymmetric crying facies associated with congenital hypoparathyroidism, severe neonatal hypocalcemia and tetralogy of Fallot. Genetic confirmation of chromosome 22q11 deletion was made. https://turkjpediatr.org/article/view/2800 |
| spellingShingle | Mustafa Akçakuş Tamer Güneş Selim Kurtoğlu Neşide Cetin Yusuf Ozkul Nazmi Narin Mehmet Emre Atabek Remzi Uğraş Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion The Turkish Journal of Pediatrics |
| title | Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion |
| title_full | Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion |
| title_fullStr | Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion |
| title_full_unstemmed | Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion |
| title_short | Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion |
| title_sort | asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion |
| url | https://turkjpediatr.org/article/view/2800 |
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